ID   TRNDi003-B
AC   CVCL_UL13
SY   HT215B
DR   hPSCreg; TRNDi003-B
DR   Wikidata; Q98133580
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: African; Somali.
CC   Sequence variation: Mutation; HGNC; 9644; PTPN11; Simple; p.Gln510Pro (c.1529A>C); ClinVar=VCV000013344; Zygosity=Heterozygous (from autologous cell line TRNDi003-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34854; Noonan syndrome
DI   ORDO; Orphanet_648; Noonan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UL12 ! TRNDi003-A
SX   Female
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 8
//